Mutational analysis of familial and sporadic hyperekplexia.

  title={Mutational analysis of familial and sporadic hyperekplexia.},
  author={Rita Shiang and Stephen G. Ryan and Y. Z. Zhu and Thomas J. Fielder and R. J. Allen and Alan Fryer and Shunichi Yamashita and P. O'Connell and John Jacob Wasmuth},
  journal={Annals of neurology},
  volume={38 1},
Hyperekplexia is a rare, autosomal dominant neurological disorder characterized by hypertonia, especially in infancy, and by an exaggerated startle response. This disorder is caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor (GLRA1). We previously reported two GLRA1 point mutations detected in 4 unrelated hyperekplexia families; both mutations were at nucleotide 1192 and resulted in the replacement of Arg271 by a glutamine (R271Q) in one case and a leucine (R271L) in… CONTINUE READING